G30R (p.Gly30Arg) variant of SMAD2 (SMAD family member 2)
G30R (p.Gly30Arg) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- cosmic curated COSV51000
- gnomAD rs2033450905
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.43
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available